title: Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis.
authors.affiliation: Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
authors.forename: F J
authors.initials: FJ
authors.lastname: Cameron
authors.forename: M J
authors.initials: MJ
authors.lastname: Smith
authors.forename: G L
authors.initials: GL
authors.lastname: Warne
authors.forename: A H
authors.initials: AH
authors.lastname: Sinclair
mesh_terms: D000293:Adolescent; D001665:Binding Sites; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006609:High Mobility Group Proteins / Q000378:metabolism; D006801:Humans; D008297:Male; D009687:Nuclear Proteins; D017354:Point Mutation; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D018388:Codon, Terminator; D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA